Expanded trinucleotide repeats in the TBP/SCA17 gene mapped to chromosome 6q27 are associated with schizophrenia

Chen, Chiung-Mei; Lane, Hsien-Yuan; Wu, Yih-Ru; Ro, Long-Sun; Chen, Fen-Lin; Hung, Wei-Ling; Hou, Yi-Ting; Lin, Cheng-Yueh; Huang, Shu-Yi; Chen, I-Cheng; Soong, Bing-Wen; Li, Ming-Liang; Hsieh-Li, Hsiu-Mei; Su, Ming-Tsan; Lee-Chen, Guey-Jen

doi:10.1016/j.schres.2005.06.018

« Previous Next »Schizophrenia Research
Volume 78, Issue 2 , Pages 131-136, 15 October 2005

Expanded trinucleotide repeats in the TBP/SCA17 gene mapped to chromosome 6q27 are associated with schizophrenia

Chiung-Mei Chen
- Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang Gung University, Taipei 105, Taiwan
Hsien-Yuan Lane
- Department of Psychiatry, China Medical University Hospital, No. 2, Yuh-Der Road, Taichung 404, Taiwan
- Corresponding authors. G.-J. Lee-Chen is to be contacted at Tel.: +886 2 29336875; fax: +886 2 29312904. H.-Y. Lane is to be contacted at Tel.: +886 4 22052121; fax: +886 4 22361042.
Yih-Ru Wu
- Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang Gung University, Taipei 105, Taiwan
Long-Sun Ro
- Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang Gung University, Taipei 105, Taiwan
Fen-Lin Chen
- Department of Life Science, National Taiwan Normal University, 88 Ting-Chou Road, Section 4, Taipei 116, Taiwan
Wei-Ling Hung
- Department of Life Science, National Taiwan Normal University, 88 Ting-Chou Road, Section 4, Taipei 116, Taiwan
Yi-Ting Hou
- Department of Life Science, National Taiwan Normal University, 88 Ting-Chou Road, Section 4, Taipei 116, Taiwan
Cheng-Yueh Lin
- Department of Life Science, National Taiwan Normal University, 88 Ting-Chou Road, Section 4, Taipei 116, Taiwan
Shu-Yi Huang
- Department of Life Science, National Taiwan Normal University, 88 Ting-Chou Road, Section 4, Taipei 116, Taiwan
I-Cheng Chen
- Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang Gung University, Taipei 105, Taiwan
Bing-Wen Soong
- Neurological Institute, Taipei Veterans General Hospital and School of Medicine, National Yang-Ming University, Taipei 112, Taiwan
Ming-Liang Li
- Department of Life Science, National Taiwan Normal University, 88 Ting-Chou Road, Section 4, Taipei 116, Taiwan
Hsiu-Mei Hsieh-Li
- Department of Life Science, National Taiwan Normal University, 88 Ting-Chou Road, Section 4, Taipei 116, Taiwan
Ming-Tsan Su
- Department of Life Science, National Taiwan Normal University, 88 Ting-Chou Road, Section 4, Taipei 116, Taiwan
Guey-Jen Lee-Chen
- Department of Life Science, National Taiwan Normal University, 88 Ting-Chou Road, Section 4, Taipei 116, Taiwan
- Corresponding authors. G.-J. Lee-Chen is to be contacted at Tel.: +886 2 29336875; fax: +886 2 29312904. H.-Y. Lane is to be contacted at Tel.: +886 4 22052121; fax: +886 4 22361042.

Received 13 April 2005; received in revised form 21 June 2005; accepted 21 June 2005.

Abstract

Schizophrenia has a complex and non-Mendelian mode of inheritance. Recently, trinucleotide repeat (TNR)-containing genes have been considered as the candidate genes predisposing to schizophrenia. The purpose of this study was to determine whether a genetic association could be observed between schizophrenia and the TNR polymorphisms within the KLHL1AS/SCA8, PPP2R2B/SCA12, and TBP/SCA17 genes. We studied 100 unrelated schizophrenia patients and 124 controls without evident neurodegenerative or psychiatric disorders. The overall allele frequency distributions of the KLHL1AS/SCA8 and PPP2R2B/SCA12 genes were not significantly different between the schizophrenic patients and the control subjects (P>0.05). The allele frequency distribution in the schizophrenic patients was significantly different from that in the controls at the TBP/SCA17 gene (P=0.0149), with an increased frequency of 36 repeats in the patients and two patients carrying 45 TNR expansions were identified. TBP/SCA17 is the TATA box binding protein gene mapped to chromosome 6q27. The study suggests that TNR expansions of the TBP/SCA17 gene may contribute to the genetic risk of schizophrenia in rare cases.